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Leber遗传性视神经病变临床研究 被引量:9

A clinical study of Leber hereditary optic neuropathy
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摘要 目的研究Leber遗传性视神经病变(LHON)不同原发性位点突变类型患者的临床表现以指导预后。方法将纳入研究的414例视神经疾病患者分临床确诊LHON组(A组),疑诊LHON组(B组)及原因不明组(C组)。各组患者均进行视力、色觉、眼压、视野及电生理检查,部分患者(64例)进行相干光断层扫描,并且均采用同样方法进行mtDNA基因检测,对基因检测结果证实LHON者,重点进行11778位点突变患者的临床分析。两组不同位点患者视力的比较采用配对t检验。结果414例中215例(52%)有基因位点突变,常见原发性位点突变患者199例,占93%。其中A组突变率100%(106/106),B组突变率65%(91/139),C组突变率11%(18/169),C组单眼发病者40例中无1例诊断LHON。对167例334只眼进行眼底检查,其中54只眼视乳头为假性视乳头水肿;67只眼视乳头色泽正常,213只眼全视乳头或视乳头颞侧苍白。OCT检查64例(128只眼)LHON患者及88例(176只眼)年龄相匹配的正常对照者的视乳头旁全周及各象限RNFL厚度平均值。显示患者RNFL厚度由早期增厚至后期逐渐薄变,但1—2年患者和2年以上患者RNFL厚度差异较小(P=0.051),不同突变位点无特异性。14484位点突变组和11778位点突变组的初始视力分别为3.6±0.65、3.75±0.54(t=0.536,P〉0.05),而随访视力分别为4.29±0.55(t=4.034,P〈0.001)、3.93±0.49(t=1.857,P〉0.05)。结论LHON不同原发性位点突变类型患者其临床表现和眼底征象有其共性,基因检测对患者视力预后判断有一定帮助。 Objective To investigate the clinical characteristics of Leber hereditary optic neurology (LHON) patients with different primary site mutation. Methods Four hundred and fowrteen patients with optic neuropathy were divided into three groups: clinically diagnosed LHON group (group A ), probable LHON group (group B), optic neuropathy of unknown reason group (group C). Visual acuity(VA) ,colour vision, Intraocular pressure (IOP), virual field and visual evoked potential (VEP) were tested for all the patients. Some(64 cases) had optical coherence tomography (OCT) measurement. Mutations of mtDNA were detected for all the groups, and clinical analysis were carried out emphatically in the patients with the 11778 mutation confirmed by gene assessment. T paired test was used to evaluate two group patients of different Mitochondrial DNA mutation. Results Gene mutations were found in 215 of the 414 patients (52%). Approximately 93% (199/255) of the patients were caused by the common primary mutations( 11778, 14484,3460 mutation) ,in which 100% mutation (106/106) in group A, 65% (91/139) in group B, and 11% (18/169) in group C. No cases were diagnosed with confirmed LHON in the patients with unilateral optic neuropathy. Fundus examination in 334 eyes of 167 cases showed pseudo papilledema (54 eyes), normal (67 eyes) ,pale disc or plae on the teperal side of the optic disc (213 eyes). On the basis data of OCT from 64 patients and 84 normal person, RNFL was found thickening at the early stage and thinning gradually at the later stage in the LHON patients. But, the RNFL thickness of patients with 1 - 2 years history was not significantly different from the patients with over 2 years history(P =0. 051 ), and there was no difference among the patients with different mitoehondrial DNA mutations. The initial mean VA of patients with the 14484 mutation and 11778 mutation were 3.6 ±0. 65,3.75 ±0. 54(t =0. 536,P 〉0. 05), but the follow-up VA were 4. 2
作者 韦企平 孙艳红 周翔天 周剑 宫晓红 贾小云 WEI Qi-ping, SUN Yan-hong, ZHOU Xiang-tian, ZHOU Jian, GONG Xiao-hong, JIA Xiao-yun. Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078, China
出处 《中华眼科杂志》 CAS CSCD 北大核心 2012年第12期1065-1068,共4页 Chinese Journal of Ophthalmology
关键词 视神经萎缩 遗传性Leber DNA 线粒体 突变 Optic atrophy,hereditary,Leber DNA,mitochondrial Mutation
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